Linked Data
ClinVar Variation Id:
2453692
ClinVar RCV Id:
RCV003187827
dbSNP Id:
rs1402313689
gnomAD v3:
2-39054685-T-C
gnomAD v4:
2-39054685-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39054685T>C , CM000664.2:g.39054685T>C | GRCh38 |
| NC_000002.11:g.39281826T>C , CM000664.1:g.39281826T>C | GRCh37 |
| NC_000002.10:g.39135330T>C | NCBI36 |
| NG_007530.1:g.70779A>G , LRG_754:g.70779A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.676A>G | ||
| ENST00000685782.1:n.1487A>G | ||
| ENST00000688189.1:n.414A>G | ||
| ENST00000689668.1:n.656A>G | ||
| ENST00000690679.1:c.749A>G | ||
| ENST00000690876.1:c.649A>G | ENSP00000508955.1:p.Arg217Gly | |
| ENST00000691229.1:c.649A>G | ENSP00000510437.1:p.Arg217Gly | |
| ENST00000692089.1:c.649A>G | ENSP00000508626.1:p.Arg217Gly | |
| ENST00000402219.8:c.649A>G MANE Select | ENSP00000384675.2:p.Arg217Gly | |
| ENST00000395038.6:c.649A>G | ENSP00000378479.2:p.Arg217Gly | |
| ENST00000402219.6:c.649A>G | ENSP00000384675.2:p.Arg217Gly | |
| ENST00000426016.5:c.649A>G | ENSP00000387784.1:p.Arg217Gly | |
| NM_005633.3:c.649A>G , LRG_754t1:c.649A>G | NP_005624.2:p.Arg217Gly | |
| XM_005264515.3:c.649A>G | XP_005264572.1:p.Arg217Gly | |
| XM_011533060.1:c.742A>G | XP_011531362.1:p.Arg248Gly | |
| XM_011533061.1:c.742A>G | XP_011531363.1:p.Arg248Gly | |
| XM_011533062.1:c.628A>G | XP_011531364.1:p.Arg210Gly | |
| XM_011533063.1:c.625A>G | XP_011531365.1:p.Arg209Gly | |
| XM_011533064.1:c.478A>G | XP_011531366.1:p.Arg160Gly | |
| XM_011533065.1:c.742A>G | XP_011531367.1:p.Arg248Gly | |
| XM_005264515.4:c.649A>G | XP_005264572.1:p.Arg217Gly | |
| XM_011533062.2:c.628A>G | XP_011531364.1:p.Arg210Gly | |
| XM_011533064.2:c.478A>G | XP_011531366.1:p.Arg160Gly | |
| NM_001382394.1:c.628A>G | NP_001369323.1:p.Arg210Gly | |
| NM_001382395.1:c.649A>G | NP_001369324.1:p.Arg217Gly | |
| NM_005633.4:c.649A>G MANE Select | NP_005624.2:p.Arg217Gly |